Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CDHR5_chr11_611583_629955	618683	TTGGTTGG others(86): Show TTGGTTGGTGGGAGGTGCTGGTTCCCATACCGGGGGGCATCGGCTGAGAG GTTCCTGCCTCTGGGGTCTGTGCTGTGCCCCCACCGGGTGTGGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02559.hp2 HG03471.hp1 NA18522.hp2 others(1): Show HG02559.hp2 HG03471.hp1 NA18522.hp2 NA19030.hp1	a0010 a0010	a0010c0017 a0010c0035 a0010c0017 a0010c0035	a0010c0017t0001 a0010c0035t0002 a0010c0017t0001 a0010c0035t0002	a0010c0017t0001g0045 a0010c0017t0001g0131 a0010c0035t0002g0067 a0010c0017t0001g0045 a0010c0017t0001g0131 a0010c0035t0002g0067	4	409	0.0098	-93	c.178 others(102): Show c.1783_1875delGCCACACCCGGTGGGGGCACAGCACAGACCCCAGAG GCAGGAACCTCTCAGCCGATGCCCCCCGGTATGGGAACCAGCACCTCCCA CCAACCA	p.Ala others(13): Show p.Ala595_Pro625del	CDHR5	ENSG00000099834.19	transcript	ENST00000397542.7	protein_coding	13/15	1928/3359	1783/2538	595/845		chr11	TogoVar
CDK11A_chr1_1697379_1729357	1708833	TCTCCTCC others(17): Show TCTCCTCCTCCTCCTCTTCCTCTTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02818.hp1 HG02818.hp1	a0028 a0028	a0028c0030 a0028c0030	a0028c0030t0003 a0028c0030t0003	a0028c0030t0003g0056 a0028c0030t0003g0056	1	372	0.0027	-24	c.940 others(31): Show c.940_963delGAAGAGGAAGAGGAGGAGGAGGAG	p.Glu others(13): Show p.Glu314_Glu321del	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding	9/20	1076/2984	940/2343	314/780		chr1	TogoVar
CELA3B_chr1_21972022_21994354	21989262	ACCATAGC others(5085): Show ACCATAGCAAGCCACTAGAACCAAGGCCCAGCTGGCAGTGCTGATCGATC CCACATCCTGAATAAAGAATAAAGATCTCTCAGAAAATTCCAAGTTGAAT CTTTCTTTCTTTGTTGACTCACCTCTTCCCCTCTGGCCTGTTCCTAAAAT CTTAGATCTCATATGCAGAGACAGGACCAGGTCCAACCCTTTCATACGAA GATGAGGGAAAAATGATGCTGGGAGAGAAGGGAGTTGCTGTGCGGTGACC TGACCATCCTGGTTTGCCTGGAACTTCAGGAGTGAAGACACTGGACATTT AATGCTAAAACTGGGAAGGTACCAGGAAAAATGGGACAAGTTGGTCGCCT TAGTATATAGTCGCACATAAGTCAGTAGCTTTTCAATGCAGGCATATAAA CATGGTAAAAATCTGCAGATAAACAGACCCTGCCAGCCCCTCAGCAGGCT CATGGTAGAGTGGGAAGGACAATGTGTGATCTGCTTCCACTGATGGGCTG GGGGCTTTGGTTATTCATTCATTCAACAAACACTTATTCCTTGTTTTAAA GGAGGGCTCAGAGGGGTAAGGAGACATGGTTCCTGCCCTGAAGTGACTCA TTATTTAAAGATAGCTCTCTTAGTCTGTGTTCATACTGCTATAAAGAACT GCCCGAGACTGGGTAGTTTATAAAGGAAAGAAGTGTAATTGACTCACAGT TCAGCATGGCTGGGGAGGCCTCAGGAAACTTAAAATCATGGTGGAAGATG AAGGGGAAGCAAGGGACCTTCTTTACAAGGTGGCAGGAAGGAAAATTGCC TAGCAAAGGGGGAAGAGCCCCTTATAAAACCATCAGATCTGGCGAGAACT CACTCACTATCATGAGAACAGCATGGGGGAACCGCCCTATGATTCAATTA CCTTCTCCCTTGACACATGGCGATTATGGGGATTACAATTCAAGGTGAGA TTTGGGTGGGGACACAAAGCCTAACCATGTCATGAGCATATCACGGTCAT TCATTAAACATGTATTAGGTACCTGCCTTGTGGCAAGTTCAGGGCTGGAA AAACAGAGACAAGTCAGGCAACCCTAGGAAGAGCCCTTACTGAAGGGGGG AGAAGACACACACACAGGTACACAGGTATACACACACAGGTACACACAAT GCTGCGCACGAGCCCAGAGCCAGCAAACAGTTGAGTTTTGAAAGGAAGAA CGCTGGCCAGGTGCAGTAGCTCATGCTTGTAATCCTAGCACTTTGGGAGG CTGAGGCAGGTAGATCAACTGAGGTCACGAGTTCGAAACTCCTTCTTAAA AAAAAAAAAGAATGCTGTTACACAGACAAAAGCAACATAAAACAAGGGAG TCTGGCTGGGCCTGGTGGTTCATACTTGTAATCCCAGCACTTTGGGAGGC CAGGGTGGGTGGATCACTTGAGCCCACGAGTTTGAGACCAGCCTGGGAAA CATGGTAAAACCCCATCTCTACAAAAAACATAAAAATTAGCCAGGTGTGG TGGTGGGTACTTGTAGTCCCAGCTACTCGGAAGACTGAGGTGGAAGAATC ACTTGAGTCCAGGAGGCAGAAGCTGCAGTGAGCTGAGACTGTGACACTGT ACTCCAGCCTGGGCACAGAGCAAGACTCTGTCTGAAAAAAAAAAAAAAAA AAATTCAACGGAATCTCTTTCCTCATATTTCTCTTTGAACACCATGAAAG GGAAGATTGTCCCAGCAAGGACACACACAAATGACTTTGATATTAATGGC CCATTTGTAGCCTCCCTTTATACTTTCAGCTACAACTGAAAAAGATGCAA CATAGAGAATAATATAGCAGAGACTCAGATAGGTATCCTCCCTTCAGAAT TAACAAATTTCACATTTTGCTTCATATTCTAAAAAATATTAATTACAATC ATTCACTAAAAAAAATCAAGAGATCTATAATTTTTTAGATCCAGCCTGTC ACCCAGGCTGGAGGGCAGTGGCACAATCCTGGCTCGCTGCAACCTCCGCC TCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGACT ACAGTCACCCACCACCATGCCTGGCTTATTTTTTTTGTTTTTGAGTTGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTACAATGGTGTAATCTCAGCTCAC TGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGCAGCTGGGACTACAGGCGCATGCCACCACGCTCAGCTAATTTTTGTAT TTTTAGTAGAGATGAGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTC CTGACCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACTGTGCCGGGCCAGGATCTATAAATTTGGAAAGGAGAT TTTATATCTTATAAAGGGTTATAGCCTGCATGGTGGCCATGCTGACAGGC TGGGAAGTGTAGCCTCCTGCAGAGATCAGAAACAGGCACTCCAAAGGAGG AGGGATTGAAGTGGAAGCTTGAAGCTGAAAGAGTTGGCTAAACATACATA TTCAACAGGTTATAGAAGGAGCTGTGGGCTGGGCGCAGTGGCTCATGCCT GTCATCCCAGCACTTTGGGAGGCTGAGGCCAGTGGATCACTTGAGGTCAG GACTTTGTGACCAGCCTGGCCAACATGGTGAAGCCCCGTCTCTACTAAAA AATACAAAATTAGGCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACT CAGGAGGCTGAGGCAGGAGAATTGCTTGAAACTGGGAGGCAGATGTTGCA ATGAGCTGAGATCATGCCATTGCACTCCAGCCTGGGTGACAAGAGCAAAA CTCCGTTTCAAAAAAAAAAGAAGGAGCTGTAAATATTAACAAAGGGGGTC CTGACACATGTGTACTGAACAAACGTATGTTACATGTGTCCCATGTTCAC TGTGGGGTGGAGACTTGACATTTAAATGCATTACTGCTGGGCATGGTGGC ATGTGCCTATAGTCCCCGCTACTCAGGAGGTGGAGACAGGAGGGTAGCTT GAAGCTAGGAGTTCAAGGCTGCAGTGCACTATGGTCGCACCTGTGAATAG CCACTGCACTCCAGCCTGGACAACATAGTGAGACCCCACCTCTTTAAGCA TGACAACAAGACCCTGTGCATCAAAAGGTGAAGCAGGAACATGAAGGTAC TCAAGTGCAGCTTCTGTAAACCAGACAGAACCAGTCCGTGGTCTGTGGTC TTCTTATCAGGAGAAAGTTACTGAAATCTGTGTCCTTACCAATCAAAGCT GGAGTTATGGCTTTGGAGCAGGAGCAGGGGGTGTGTTAGGGTCTGGTGGT GGATGAGCTGCAGTTGTTTTAATATTATTGATCTCAAGGCCAGTGCTTGT TGAGCTGCTAGAGAAAAGGAAAAATCTCAGGCAGCTGGGAACGGTGGCTC ATGCCTATAATCCCAGCACTTTGGGAGGTTAGGGTAGGAGGACTGGAGGA CTGCTTGAACCCAGGGGTTTGAGACCAGCTTGGGCAACATGGCAAAACCC CATCTTAGCTGGGTGGTGTGACACATGCCTGTAGTCCCAGCTACTTGGGA GGCAGAGGTGGGAAGATCACTTGAGCCCGAGAGGTTGAGGCTGCAGTGAG CTGTGATTGCACCACTGTACCACTCCAGCCTGGGTGACAGATTGAGACCT TGTCTCCAAAAAAAAAAAAAAGAAAGAAAAATCTTGTGGCAGTTAGAACA TAGTTCTAATGGCAGGATGTCCAGGTGTCCTGATACCACATCACAATATC CGCTTTTAAGACAGTTACAGTCATGCTTTGATGTATTTCCGCACTAAAAT ACCAAGGATAATTTTCTTTAAATCAACAAAATACTAAATTTTCTTTTAAA AAGGTTATTGTATTTATGGCTGGGCACTGTGACTCATGCCTGTAATCCCG GCACTTTGGGAGGCTGAGGCAGGTGGGTCACTTGAGGTCAGGAGTTCGAG ACCAGACTGGCCAACATGGCGAAATCCCGTCTCTAATAAAAATACAAAAA ATTAGCTGAGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTTGGAGGC TGAGGTGGAAGAATTGCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCTG AGATCGCACCACTGCACTCCAGCCTGCACAACAGAAAGGACCTCCTCTCC AAAAAAAAAAAAAAAAAAGAAGAAGAAAAGAAAAGAAATTGTATTTGTTC ATTTATTTTTCAAAGCCAAATACTTCTGAATTTCTTTAAAAAAAATTTTT TTCTACGCAGTCTCGCTCTGTTGTCCGGCTGGAGTACAGTGGCCCCATCA CTGCTCACTGCAGCCTTGACCTCCCGGGCTCAAGTGATCCTCGCACCTCA ACCTCCCAAGTAGCTGGGACTACAGGTGCATGCTACCATGCCCAGCTAAT TTTTGTATTTTTTTGTAGAGATGGGGTTTCACCCCATTGCCCAGGCTGGT CTTGAACTCCCAGGCTCAAGTGATCCACCTACCTCAGCCTCCCAAAGTGC TAGGATTACAGGTGTGAGCCACTGCACCTGGACTCAGATTTTGTCTTTCT TGAAAACCTCCTTCGACCTCAGCCCATCCGCTCCTCCACTGCCCCCACCC TGGTTACCTGGAGAACCTCTGCAGAACCCACACTAGCCTCCCTGATGGCA TTCTGGCTCCTCTTCAAACCGTTTCCCACTCAGCAGCCAGAGACATGCTT CAAGACATAAGCTGGATCATGTTCTCCTGTGGAAAACCCTTCAAAGGCCT CCTGTGGCCTTGTGTGCCTGCCCTGCAGGAATCTCCAGCCCCACTTCTCT GCTCCCATCCCAGAGAAGCTCCAGTCCTTAGATTTATTCCTTGCTGTATC GTGGCTGGGCAGGGGCAGGCTGGATTTCCCAGGCACCTATGACAGCAGGC TTCTCCCACTTCCAGTGGGAGATTGAAAGGCTGGAGGGAGAGAGAAACCT CCCTCCTATCCTCCAAAAGGTACTTCTCTCCCTACACTTCCTCCACTGCT CCCACCAGACATGCCTGGGCTGGGCCCAGCTTTGGCGAGGTGA	A A	stop_lost others(4): Show stop_lost 3_prime_UTR_truncation exon_loss_variant conservative_inframe_deletion splice_region_variant	HIGH	HG01515.hp2 HG01515.hp2	a0000 a0000	a0000c0019 a0000c0019	a0000c0019t0002 a0000c0019t0002	a0000c0019t0002g0174 a0000c0019t0002g0174	1	444	0.0023	-5092	c.799 others(9): Show c.799_*5077del	p.Ile others(13): Show p.Ile267_Ter271del	CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	8/8	817/906	799/813	267/270	INFO_REALIGN_3_PRIME	chr1	TogoVar
CEL_chr9_133056981_133076861	133071368	GGCCCCCC others(125): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGC CCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGG GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02451.hp1 HG02451.hp1	a0020 a0020	a0020c0238 a0020c0238	a0020c0238t0001 a0020c0238t0001	a0020c0238t0001g0090 a0020c0238t0001g0090	1	416	0.0024	-132	c.189 others(9): Show c.1894_2025del	p.Ser others(13): Show p.Ser632_Asp675del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1916/2381	1894/2262	632/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071401	GGCCCCCC others(92): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGC CCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20905.hp1 NA20905.hp1	a0049 a0049	a0049c0110 a0049c0110	a0049c0110t0001 a0049c0110t0001	a0049c0110t0001g0095 a0049c0110t0001g0095	1	416	0.0024	-99	c.192 others(108): Show c.1927_2025delTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCC GGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCC GCCCACGGGTGAC	p.Ser others(13): Show p.Ser643_Asp675del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1949/2381	1927/2262	643/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071401	GGCCCCCC others(158): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGC CCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC GCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCC CACGGGTGACTCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02083.hp1 HG02155.hp1 HG02083.hp1 HG02155.hp1	a0028 a0028	a0028c0032 a0028c0032	a0028c0032t0001 a0028c0032t0001	a0028c0032t0001g0001 a0028c0032t0001g0001	2	416	0.0048	-165	c.194 others(9): Show c.1945_2109del	p.Pro others(13): Show p.Pro649_Val703del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1967/2381	1945/2262	649/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071467	GGCCCCCC others(26): Show GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03041.hp2 HG03041.hp2	a0040 a0040	a0040c0157 a0040c0157	a0040c0157t0001 a0040c0157t0001	a0040c0157t0001g0001 a0040c0157t0001g0001	1	416	0.0024	-33	c.199 others(42): Show c.1993_2025delTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGAC	p.Ser others(13): Show p.Ser665_Asp675del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2015/2381	1993/2262	665/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071501	GCCCCCCC others(26): Show GCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03540.hp2 HG03540.hp2	a0045 a0045	a0045c0175 a0045c0175	a0045c0175t0001 a0045c0175t0001	a0045c0175t0001g0001 a0045c0175t0001g0001	1	416	0.0024	-33	c.202 others(42): Show c.2026_2058delGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGAC	p.Ala others(13): Show p.Ala676_Asp686del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2048/2381	2026/2262	676/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071504	CCCCCCGT others(125): Show CCCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CCCCCGTGACCCCCACGGGTGACTCCGAGACCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03491.hp2 HG03491.hp2	a0053 a0053	a0053c0080 a0053c0080	a0053c0080t0001 a0053c0080t0001	a0053c0080t0001g0031 a0053c0080t0001g0031	1	416	0.0024	-132	c.202 others(9): Show c.2026_2157del	p.Ala others(13): Show p.Ala676_Asp719del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2048/2381	2026/2262	676/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEL_chr9_133056981_133076861	133071603	CCCCCCGT others(26): Show CCCCCCGTGACCCCCACGGGTGACTCCGAGACCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp1 HG00609.hp1	a0007 a0007	a0007c0215 a0007c0215	a0007c0215t0001 a0007c0215t0001	a0007c0215t0001g0002 a0007c0215t0001g0002	1	416	0.0024	-33	c.211 others(42): Show c.2110_2142delACCCCCACGGGTGACTCCGAGACCGCCCCCGTG	p.Thr others(13): Show p.Thr704_Val714del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2132/2381	2110/2262	704/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMIP_chr15_80774370_80956771	80948905	TGAA TGAA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01168.hp1 HG01192.hp1 HG03239.hp2 HG01168.hp1 HG01192.hp1 HG03239.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0014 a0003c0009t0001g0099 a0003c0009t0001g0101 a0003c0009t0001g0014 a0003c0009t0001g0099 a0003c0009t0001g0101	3	254	0.0118	-3	c.407 others(12): Show c.4078_4080delAAG	p.Lys others(7): Show p.Lys1360del	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	30/30	4498/7353	4078/4086	1360/1361	INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPV_chr17_16337537_16358469	16353349	CGGCCGCG others(11): Show CGGCCGCGGAGGCCGCGGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0070 a0006c0008t0001g0070	1	356	0.0028	-18	c.70_ others(23): Show c.70_87delCCCGCGGCCTCCGCGGCC	p.Pro others(11): Show p.Pro24_Ala29del	CENPV	ENSG00000166582.11	transcript	ENST00000299736.5	protein_coding	1/5	120/1132	70/819	24/272		chr17	TogoVar
CEP162_chr6_84119250_84232643	84186595	TTTC TTTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01074.hp2 HG01243.hp2 HG01257.hp2 others(11): Show HG01074.hp2 HG01243.hp2 HG01257.hp2 HG01928.hp2 HG01981.hp2 HG02148.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG02886.hp1 HG03492.hp1 HG03669.hp1 HG03834.hp2 HG03942.hp1	a0003 a0011 a0003 a0011	a0003c0003 a0003c0021 a0011c0018 a0003c0003 a0003c0021 a0011c0018	a0003c0003t0001 a0003c0003t0003 a0003c0021t0003 others(1): Show a0003c0003t0001 a0003c0003t0003 a0003c0021t0003 a0011c0018t0003	a0003c0003t0001g0043 a0003c0003t0003g0040 a0003c0003t0003g0041 others(11): Show a0003c0003t0001g0043 a0003c0003t0003g0040 a0003c0003t0003g0041 a0003c0003t0003g0042 a0003c0003t0003g0045 a0003c0003t0003g0046 a0003c0003t0003g0047 a0003c0003t0003g0048 a0003c0003t0003g0090 a0003c0003t0003g0091 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0021t0003g0049 a0011c0018t0003g0039	14	214	0.0654	-3	c.113 others(12): Show c.1135_1137delGAA	p.Glu others(6): Show p.Glu379del	CEP162	ENSG00000135315.12	transcript	ENST00000403245.8	protein_coding	12/27	1260/5155	1135/4212	379/1403		chr6	TogoVar
CEP170B_chr14_104860268_104901747	104886547	CGCAGGA CGCAGGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp2 HG00544.hp1 HG01071.hp1 others(33): Show HG00408.hp2 HG00544.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp2 HG01168.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG01934.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02523.hp2 HG02735.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18940.hp2 NA18948.hp2 NA18975.hp2 NA19002.hp2 NA19074.hp2 NA19083.hp1 NA19089.hp1 NA20905.hp1	a0002 a0006 a0013 a0002 a0006 a0013	a0002c0004 a0002c0009 a0002c0012 others(6): Show a0002c0004 a0002c0009 a0002c0012 a0002c0028 a0002c0029 a0002c0060 a0002c0064 a0006c0030 a0013c0089	a0002c0004t0002 a0002c0009t0002 a0002c0009t0012 others(7): Show a0002c0004t0002 a0002c0009t0002 a0002c0009t0012 a0002c0012t0002 a0002c0028t0002 a0002c0029t0002 a0002c0060t0002 a0002c0064t0002 a0006c0030t0002 a0013c0089t0002	a0002c0004t0002g0007 a0002c0004t0002g0028 a0002c0004t0002g0030 others(24): Show a0002c0004t0002g0007 a0002c0004t0002g0028 a0002c0004t0002g0030 a0002c0004t0002g0179 a0002c0004t0002g0181 a0002c0004t0002g0203 a0002c0004t0002g0208 a0002c0004t0002g0212 a0002c0004t0002g0216 a0002c0004t0002g0217 a0002c0004t0002g0227 a0002c0009t0002g0006 a0002c0009t0002g0185 a0002c0009t0002g0207 a0002c0009t0002g0215 a0002c0009t0012g0183 a0002c0012t0002g0029 a0002c0012t0002g0211 a0002c0012t0002g0228 a0002c0028t0002g0206 a0002c0028t0002g0218 a0002c0029t0002g0031 a0002c0060t0002g0186 a0002c0064t0002g0171 a0006c0030t0002g0184 a0006c0030t0002g0210 a0013c0089t0002g0006	36	328	0.1098	-6	c.231 others(15): Show c.2311_2316delAGGAGC	p.Arg others(13): Show p.Arg771_Ser772del	CEP170B	ENSG00000099814.17	transcript	ENST00000414716.8	protein_coding	12/19	2584/6727	2311/4665	771/1554	INFO_REALIGN_3_PRIME	chr14	TogoVar
CEP192_chr18_12986362_13130036	13049812	GAGC GAGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01952.hp2 HG02486.hp2 HG02615.hp2 others(7): Show HG01952.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG03130.hp2 HG03225.hp1 NA18906.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0006 a0007c0007t0002g0023 a0007c0007t0002g0024 others(6): Show a0007c0007t0002g0006 a0007c0007t0002g0023 a0007c0007t0002g0024 a0007c0007t0002g0026 a0007c0007t0002g0027 a0007c0007t0002g0028 a0007c0007t0002g0029 a0007c0007t0002g0030 a0007c0007t0002g0031	10	392	0.0255	-3	c.294 others(12): Show c.2941_2943delCAG	p.Gln others(6): Show p.Gln981del	CEP192	ENSG00000101639.19	transcript	ENST00000506447.5	protein_coding	17/45	3021/7960	2941/7614	981/2537	INFO_REALIGN_3_PRIME	chr18	TogoVar
CFAP100_chr3_126389909_126441556	126423590	CGGA CGGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00639.hp1 HG01099.hp1 others(8): Show HG00140.hp1 HG00639.hp1 HG01099.hp1 HG01106.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG02738.hp1 HG03239.hp2 HG03688.hp1 NA18968.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0075 a0003c0005t0001g0149 others(7): Show a0003c0005t0001g0012 a0003c0005t0001g0075 a0003c0005t0001g0149 a0003c0005t0001g0163 a0003c0005t0001g0164 a0003c0005t0001g0166 a0003c0005t0001g0167 a0003c0005t0001g0186 a0003c0005t0001g0240 a0003c0005t0001g0353	11	422	0.0261	-3	c.123 others(12): Show c.1234_1236delGAG	p.Glu others(6): Show p.Glu412del	CFAP100	ENSG00000163885.12	transcript	ENST00000352312.6	protein_coding	13/17	1363/2117	1234/1836	412/611	INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP91_chr3_119698022_119772102	119703190	TCTC TCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00597.hp1 NA18994.hp2 NA19002.hp2 others(1): Show HG00597.hp1 NA18994.hp2 NA19002.hp2 NA19083.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0009 a0007c0011t0009	a0007c0011t0009g0191 a0007c0011t0009g0192 a0007c0011t0009g0193 others(1): Show a0007c0011t0009g0191 a0007c0011t0009g0192 a0007c0011t0009g0193 a0007c0011t0009g0295	4	386	0.0104	-3	c.97_ others(8): Show c.97_99delTCC	p.Ser others(5): Show p.Ser33del	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	1/18	174/4433	97/2304	33/767	INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1_chr5_98848985_98934007	98856460	AAGG AAGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp1 HG00642.hp1 HG00735.hp1 others(69): Show HG00323.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG02055.hp2 HG02109.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp1 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18965.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18981.hp2 NA18987.hp1 NA18988.hp1 NA18998.hp1 NA19004.hp1 NA19006.hp2 NA19043.hp1 NA19081.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 others(8): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0024 a0002c0002t0025 a0003c0009t0002	a0002c0002t0002g0003 a0002c0002t0002g0072 a0002c0002t0002g0074 others(67): Show a0002c0002t0002g0003 a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0136 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0199 a0002c0002t0002g0226 a0002c0002t0002g0295 a0002c0002t0005g0014 a0002c0002t0005g0015 a0002c0002t0005g0016 a0002c0002t0005g0018 a0002c0002t0005g0019 a0002c0002t0005g0020 a0002c0002t0005g0021 a0002c0002t0005g0022 a0002c0002t0005g0023 a0002c0002t0007g0008 a0002c0002t0007g0009 a0002c0002t0007g0010 a0002c0002t0007g0011 a0002c0002t0010g0004 a0002c0002t0010g0121 a0002c0002t0010g0122 a0002c0002t0011g0073 a0002c0002t0011g0075 a0002c0002t0011g0076 a0002c0002t0016g0134 a0002c0002t0016g0135 a0002c0002t0017g0193 a0002c0002t0017g0230 a0002c0002t0018g0012 a0002c0002t0024g0045 a0002c0002t0025g0133 a0003c0009t0002g0078	72	334	0.2156	-3	c.505 others(12): Show c.5050_5052delCCT	p.Pro others(7): Show p.Pro1684del	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	36/36	5669/8145	5050/5133	1684/1710		chr5	TogoVar
CHRNA3_chr15_78590309_78625996	78620725	ACAG ACAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0001c0016 a0007c0017 a0008c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0020 a0001c0001t0022 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0023 a0001c0003t0025 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0008 a0001c0004t0009 a0001c0004t0013 a0001c0005t0004 a0001c0005t0005 a0001c0005t0018 a0001c0005t0021 a0001c0006t0002 a0001c0006t0005 a0001c0006t0007 a0001c0006t0014 a0001c0008t0004 a0001c0015t0017 a0001c0016t0004 a0007c0017t0003 a0008c0018t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(233): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0002g0159 a0001c0001t0003g0148 a0001c0001t0011g0210 a0001c0001t0011g0211 a0001c0001t0012g0112 a0001c0001t0012g0113 a0001c0001t0020g0107 a0001c0001t0022g0171 a0001c0003t0001g0259 a0001c0003t0001g0267 a0001c0003t0001g0290 a0001c0003t0002g0289 a0001c0003t0003g0017 a0001c0003t0003g0052 a0001c0003t0003g0243 a0001c0003t0003g0244 a0001c0003t0003g0245 a0001c0003t0003g0246 a0001c0003t0003g0247 a0001c0003t0003g0249 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0252 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0258 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0268 a0001c0003t0003g0269 a0001c0003t0003g0270 a0001c0003t0003g0271 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0003t0003g0274 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0003t0003g0277 a0001c0003t0003g0278 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0286 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0291 a0001c0003t0003g0292 a0001c0003t0003g0293 a0001c0003t0003g0294 a0001c0003t0003g0295 a0001c0003t0023g0248 a0001c0003t0025g0297 a0001c0004t0001g0104 a0001c0004t0001g0116 a0001c0004t0002g0134 a0001c0004t0005g0016 a0001c0004t0005g0220 a0001c0004t0005g0224 a0001c0004t0005g0235 a0001c0004t0005g0236 a0001c0004t0005g0237 a0001c0004t0005g0238 a0001c0004t0005g0239 a0001c0004t0005g0240 a0001c0004t0005g0241 a0001c0004t0006g0015 a0001c0004t0006g0049 a0001c0004t0006g0050 a0001c0004t0006g0051 a0001c0004t0006g0219 a0001c0004t0006g0225 a0001c0004t0006g0226 a0001c0004t0006g0227 a0001c0004t0006g0228 a0001c0004t0006g0229 a0001c0004t0006g0230 a0001c0004t0006g0231 a0001c0004t0006g0242 a0001c0004t0008g0007 a0001c0004t0008g0033 a0001c0004t0008g0110 a0001c0004t0008g0111 a0001c0004t0009g0223 a0001c0004t0009g0233 a0001c0004t0009g0234 a0001c0004t0013g0222 a0001c0004t0013g0232 a0001c0005t0004g0002 a0001c0005t0004g0011 a0001c0005t0004g0035 a0001c0005t0004g0118 a0001c0005t0004g0120 a0001c0005t0004g0121 a0001c0005t0004g0122 a0001c0005t0004g0123 a0001c0005t0004g0124 a0001c0005t0004g0125 a0001c0005t0004g0127 a0001c0005t0004g0128 a0001c0005t0004g0129 a0001c0005t0004g0130 a0001c0005t0004g0135 a0001c0005t0005g0109 a0001c0005t0005g0126 a0001c0005t0005g0131 a0001c0005t0005g0132 a0001c0005t0018g0119 a0001c0005t0021g0108 a0001c0006t0002g0207 a0001c0006t0002g0208 a0001c0006t0005g0105 a0001c0006t0005g0106 a0001c0006t0007g0006 a0001c0006t0007g0018 a0001c0006t0007g0053 a0001c0006t0007g0054 a0001c0006t0007g0055 a0001c0006t0007g0056 a0001c0006t0007g0058 a0001c0006t0014g0057 a0001c0008t0004g0034 a0001c0008t0004g0114 a0001c0008t0004g0115 a0001c0015t0017g0133 a0001c0016t0004g0117 a0007c0017t0003g0256 a0008c0018t0003g0257	314	410	0.7659	-3	c.67_ others(8): Show c.67_69delCTG	p.Leu others(5): Show p.Leu23del	CHRNA3	ENSG00000080644.16	transcript	ENST00000326828.6	protein_coding	1/6	271/3015	67/1518	23/505		chr15	TogoVar
CHRNA4_chr20_63338223_63366349	63356063	GCAGCTTG others(5): Show GCAGCTTGTAGTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0046 a0004c0010t0008g0046	1	168	0.0060	-12	c.283 others(19): Show c.283_294delGACTACAAGCTG	p.Asp others(11): Show p.Asp95_Leu98del	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/6	478/5583	283/1884	95/627		chr20	TogoVar
CIBAR1_chr8_93695550_93736527	93728272	CAGA CAGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01243.hp2 HG01884.hp1 HG02109.hp1 others(17): Show HG01243.hp2 HG01884.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02486.hp1 HG02572.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 NA18906.hp2 NA19030.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0007 a0002c0002t0024 others(2): Show a0002c0002t0004 a0002c0002t0007 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026	a0002c0002t0004g0011 a0002c0002t0004g0044 a0002c0002t0004g0088 others(10): Show a0002c0002t0004g0011 a0002c0002t0004g0044 a0002c0002t0004g0088 a0002c0002t0004g0149 a0002c0002t0004g0150 a0002c0002t0004g0151 a0002c0002t0004g0152 a0002c0002t0004g0155 a0002c0002t0007g0024 a0002c0002t0007g0154 a0002c0002t0024g0148 a0002c0002t0025g0044 a0002c0002t0026g0153	20	374	0.0535	-3	c.853 others(10): Show c.853_855delGAA	p.Glu others(6): Show p.Glu285del	CIBAR1	ENSG00000188343.14	transcript	ENST00000518322.6	protein_coding	9/9	951/4198	853/870	285/289	INFO_REALIGN_3_PRIME	chr8	TogoVar
CKAP4_chr12_106232881_106253020	106247671	TCTGCGGG others(5): Show TCTGCGGGTGCTG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0004 a0009c0012t0004	a0009c0012t0004g0031 a0009c0012t0004g0031	2	418	0.0048	-12	c.169 others(19): Show c.169_180delCAGCACCCGCAG	p.Gln others(11): Show p.Gln57_Gln60del	CKAP4	ENSG00000136026.14	transcript	ENST00000378026.5	protein_coding	1/2	349/3121	169/1809	57/602		chr12	TogoVar
CLCA4_chr1_86542078_86585754	86580219	ACCTACT ACCTACT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp2 HG01169.hp2 HG01891.hp2 others(27): Show HG01167.hp2 HG01169.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp1 HG06807.hp2 NA18990.hp1 NA19043.hp2 NA20129.hp1 NA20300.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0008 a0004c0004 a0004c0011 others(3): Show a0001c0008 a0004c0004 a0004c0011 a0004c0019 a0005c0005 a0005c0016	a0001c0008t0001 a0004c0004t0001 a0004c0011t0001 others(3): Show a0001c0008t0001 a0004c0004t0001 a0004c0011t0001 a0004c0019t0001 a0005c0005t0001 a0005c0016t0001	a0001c0008t0001g0101 a0001c0008t0001g0116 a0001c0008t0001g0174 others(18): Show a0001c0008t0001g0101 a0001c0008t0001g0116 a0001c0008t0001g0174 a0004c0004t0001g0008 a0004c0004t0001g0023 a0004c0004t0001g0037 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0167 a0004c0004t0001g0168 a0004c0004t0001g0185 a0004c0004t0001g0186 a0004c0011t0001g0008 a0004c0019t0001g0166 a0005c0005t0001g0007 a0005c0005t0001g0093 a0005c0005t0001g0094 a0005c0005t0001g0136 a0005c0005t0001g0178 a0005c0016t0001g0023	30	334	0.0898	-6	c.265 others(15): Show c.2656_2661delACTCCT	p.Thr others(13): Show p.Thr886_Pro887del	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	14/14	2698/3211	2656/2760	886/919	INFO_REALIGN_3_PRIME	chr1	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(93): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0002 a0003c0023t0002	a0003c0023t0002g0323 a0003c0023t0002g0323	1	404	0.0025	-100	c.739 others(110): Show c.739-91_747delCGTCACGCGTGTCTCTGAGCATCGGTCCTTCTGGT CTCCAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGT CTCCAGGAAGGGCCG	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805		chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(143): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02622.hp1 HG02622.hp2 HG02622.hp1 HG02622.hp2	a0003 a0003	a0003c0016 a0003c0021 a0003c0016 a0003c0021	a0003c0016t0050 a0003c0021t0013 a0003c0016t0050 a0003c0021t0013	a0003c0016t0050g0154 a0003c0021t0013g0189 a0003c0016t0050g0154 a0003c0021t0013g0189	2	404	0.0050	-150	c.739 others(11): Show c.739-141_747del	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805		chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(193): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0021 a0003c0013t0021	a0003c0013t0021g0055 a0003c0013t0021g0055	1	404	0.0025	-200	c.738 others(11): Show c.738+166_747del	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805		chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(243): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0109 a0003c0013t0001g0109	1	404	0.0025	-250	c.738 others(11): Show c.738+116_747del	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805		chr16	TogoVar
CLEC18A_chr16_69946334_69968986	69962015	CCTT CCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02723.hp1 HG02818.hp1 HG03486.hp2 HG02723.hp1 HG02818.hp1 HG03486.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0008 a0010c0011t0008	a0010c0011t0008g0025 a0010c0011t0008g0025	3	379	0.0079	-3	c.114 others(12): Show c.1144_1146delTTC	p.Phe others(6): Show p.Phe382del	CLEC18A	ENSG00000157322.18	transcript	ENST00000288040.11	protein_coding	10/12	1177/1749	1144/1341	382/446	INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC18C_chr16_70168787_70191895	70184923	CCTT CCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02723.hp1 HG02818.hp1 HG03486.hp2 HG02723.hp1 HG02818.hp1 HG03486.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0005 a0009c0010t0005	a0009c0010t0005g0020 a0009c0010t0005g0020	3	355	0.0085	-3	c.114 others(12): Show c.1144_1146delTTC	p.Phe others(6): Show p.Phe382del	CLEC18C	ENSG00000157335.21	transcript	ENST00000541793.7	protein_coding	11/13	1415/1987	1144/1341	382/446	INFO_REALIGN_3_PRIME	chr16	TogoVar
CLIC1_chr6_31725599_31741530	31736288	GTTC GTTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp1 HG02083.hp1 HG02135.hp2 others(9): Show HG00408.hp1 HG02083.hp1 HG02135.hp2 HG02559.hp2 HG03831.hp1 NA18939.hp1 NA18944.hp2 NA18965.hp2 NA18968.hp1 NA18990.hp2 NA19057.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 others(4): Show a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051	12	395	0.0304	-3	c.10_ others(8): Show c.10_12delGAA	p.Glu others(4): Show p.Glu4del	CLIC1	ENSG00000213719.8	transcript	ENST00000375784.8	protein_coding	1/6	242/1199	10/726	4/241		chr6	TogoVar
CLSPN_chr1_35727112_35774978	35738058	TTTC TTTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp1 HG00323.hp2 HG01168.hp2 others(5): Show HG00280.hp1 HG00323.hp2 HG01168.hp2 HG01169.hp2 HG03017.hp1 HG03491.hp1 HG03704.hp2 NA20905.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0024 a0004c0004t0004g0034 a0004c0004t0004g0035 others(4): Show a0004c0004t0004g0024 a0004c0004t0004g0034 a0004c0004t0004g0035 a0004c0004t0004g0200 a0004c0004t0004g0201 a0004c0004t0004g0202 a0004c0004t0004g0203	8	296	0.0270	-3	c.359 others(12): Show c.3595_3597delGAA	p.Glu others(7): Show p.Glu1199del	CLSPN	ENSG00000092853.14	transcript	ENST00000318121.8	protein_coding	22/25	3705/8512	3595/4020	1199/1339		chr1	TogoVar
CMTM2_chr16_66574463_66593275	66579699	GTAAGGAG others(35): Show GTAAGGAGCCATCGGACAAACCTCAAAAGGCGGTGCAGGACCA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00673.hp2 HG00673.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0002 a0006c0006t0001g0002	1	410	0.0024	-42	c.130 others(49): Show c.130_171delGACCATAAGGAGCCATCGGACAAACCTCAAAAGGCGGT GCAG	p.Asp others(11): Show p.Asp44_Gln57del	CMTM2	ENSG00000140932.10	transcript	ENST00000268595.3	protein_coding	1/4	275/1048	130/747	44/248	INFO_REALIGN_3_PRIME	chr16	TogoVar
CNDP1_chr18_74529500_74592212	74556356	GTGC GTGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02622.hp2 HG03041.hp1 HG03098.hp1 others(2): Show HG02622.hp2 HG03041.hp1 HG03098.hp1 HG06807.hp2 NA19030.hp2	a0011 a0017 a0011 a0017	a0011c0021 a0017c0027 a0011c0021 a0017c0027	a0011c0021t0001 a0011c0021t0004 a0017c0027t0004 others(1): Show a0011c0021t0001 a0011c0021t0004 a0017c0027t0004 a0017c0027t0007	a0011c0021t0001g0091 a0011c0021t0004g0065 a0011c0021t0004g0066 others(2): Show a0011c0021t0001g0091 a0011c0021t0004g0065 a0011c0021t0004g0066 a0017c0027t0004g0093 a0017c0027t0007g0055	5	390	0.0128	-3	c.58_ others(8): Show c.58_60delCTG	p.Leu others(5): Show p.Leu20del	CNDP1	ENSG00000150656.15	transcript	ENST00000358821.8	protein_coding	2/12	226/4342	58/1524	20/507	INFO_REALIGN_3_PRIME	chr18	TogoVar
COL17A1_chr10_104026286_104090880	104057110	CGCCACCA others(20): Show CGCCACCAACACCGCCACCTCCTCCACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01884.hp1 HG02896.hp1 HG03041.hp1 others(1): Show HG01884.hp1 HG02896.hp1 HG03041.hp1 HG03516.hp1	a0010 a0010	a0010c0021 a0010c0028 a0010c0029 a0010c0021 a0010c0028 a0010c0029	a0010c0021t0001 a0010c0028t0001 a0010c0029t0004 a0010c0021t0001 a0010c0028t0001 a0010c0029t0004	a0010c0021t0001g0251 a0010c0021t0001g0252 a0010c0028t0001g0254 others(1): Show a0010c0021t0001g0251 a0010c0021t0001g0252 a0010c0028t0001g0254 a0010c0029t0004g0253	4	336	0.0119	-27	c.130 others(36): Show c.1303_1329delAGTGGAGGAGGTGGCGGTGTTGGTGGC	p.Ser others(13): Show p.Ser435_Gly443del	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	17/56	1498/5612	1303/4494	435/1497		chr10	TogoVar
COL18A1_chr21_45400165_45518720	45497073	CGGGCCTC others(32): Show CGGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGCTCACA	C C	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02257.hp1 HG02257.hp1	a0027 a0027	a0027c0070 a0027c0070	a0027c0070t0001 a0027c0070t0001	a0027c0070t0001g0012 a0027c0070t0001g0012	1	292	0.0034	-39	c.260 others(51): Show c.2603_2620+21delGGCCTCCAGGATTGCCAGGTGAGGGTCCTGGGC TCACAG	p.Pro others(13): Show p.Pro869_Gly874del	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	31/42	2669/5408	2603/4020	868/1339	INFO_REALIGN_3_PRIME	chr21	TogoVar
COL5A3_chr19_9954561_10015504	9969393	CTGGTTCA others(19): Show CTGGTTCACCCTGAGAATGGAACAGAA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19087.hp1 NA19087.hp1	a0060 a0060	a0060c0123 a0060c0123	a0060c0123t0001 a0060c0123t0001	a0060c0123t0001g0388 a0060c0123t0001g0388	1	412	0.0024	-26	c.409 others(38): Show c.4099-17_4107delTTCTGTTCCATTCTCAGGGTGAACCA	p.Gly others(15): Show p.Gly1367_Gly1370del	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	57/67	4226/6207	4099/5238	1367/1745		chr19	TogoVar
CPT2_chr1_53191824_53219197	53210928	GCTGACTG others(23): Show GCTGACTGATGCCTTAAAGACTGGCATCACA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0078 a0007c0014t0001g0078	1	386	0.0026	-30	c.125 others(39): Show c.1255_1284delCTGACTGATGCCTTAAAGACTGGCATCACA	p.Leu others(13): Show p.Leu419_Thr428del	CPT2	ENSG00000157184.7	transcript	ENST00000371486.4	protein_coding	4/5	1375/2699	1255/1977	419/658		chr1	TogoVar
CRNKL1_chr20_20029368_20057466	20042411	CATTGGCA others(14): Show CATTGGCAATGGCCCTTTCATA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19059.hp2 NA19059.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0071 a0005c0008t0001g0071	1	428	0.0023	-21	c.105 others(30): Show c.1057_1077delTATGAAAGGGCCATTGCCAAT	p.Tyr others(13): Show p.Tyr353_Asn359del	CRNKL1	ENSG00000101343.15	transcript	ENST00000536226.2	protein_coding	8/14	1201/4015	1057/2064	353/687		chr20	TogoVar
CSNKA2IP_chr3_88333456_88472594	88467218	TCCA TCCA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01243.hp1 HG02109.hp1 HG02129.hp2 others(3): Show HG01243.hp1 HG02109.hp1 HG02129.hp2 HG02257.hp1 HG02896.hp1 HG03195.hp1	a0006 a0015 a0006 a0015	a0006c0008 a0015c0026 a0006c0008 a0015c0026	a0006c0008t0001 a0006c0008t0002 a0015c0026t0001 a0006c0008t0001 a0006c0008t0002 a0015c0026t0001	a0006c0008t0001g0004 a0006c0008t0001g0150 a0006c0008t0001g0243 others(3): Show a0006c0008t0001g0004 a0006c0008t0001g0150 a0006c0008t0001g0243 a0006c0008t0001g0244 a0006c0008t0002g0371 a0015c0026t0001g0069	6	386	0.0155	-3	c.186 others(12): Show c.1867_1869delACC	p.Thr others(6): Show p.Thr623del	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	2/2	2325/2695	1867/2205	623/734	INFO_REALIGN_3_PRIME	chr3	TogoVar
CT47A6_chrX_120953165_120966487	120961102	TGCTGTCG others(2): Show TGCTGTCGGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0014 a0010c0008t0005g0014	1	110	0.0091	-9	c.118 others(16): Show c.118_126delCCCGACAGC	p.Pro others(11): Show p.Pro40_Ser42del	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	385/1298	118/867	40/288		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146814392	TCTTTAGG others(8): Show TCTTTAGGCCCTACAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0013 a0008c0005t0001g0013	1	264	0.0038	-15	c.133 others(24): Show c.133-6_141delCTGTAGGGCCTAAAG	p.Gly others(11): Show p.Gly45_Thr48del	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding	2/2	162/449	133/327	45/108		chrX	TogoVar
CYLC2_chr9_102990333_103023488	103005600	TAAGAAGG others(5): Show TAAGAAGGATGCA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp2 HG02976.hp1 HG03098.hp2 others(1): Show HG01109.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0034 a0003c0003t0045 a0003c0003t0046 a0003c0003t0034 a0003c0003t0045 a0003c0003t0046	a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 others(1): Show a0003c0003t0034g0202 a0003c0003t0034g0203 a0003c0003t0045g0200 a0003c0003t0046g0201	4	448	0.0089	-12	c.988 others(19): Show c.988_999delGATGCAAAGAAG	p.Asp others(13): Show p.Asp330_Lys333del	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	5/8	1036/2149	988/1047	330/348	INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP3A43_chr7_99823013_99871093	99863766	AAAAATTA others(2166): Show AAAAATTATTGTTCATTTTTCAATAATTTGCTCTGTAGGACAAAGAATCT AATTGGAGCTATCCATAATGCTTAAAGATGAATCACTTCTGGAGTTCAAA ATCTGTGGCTTTGTAAAGACAGAACTATAAAGATCATCTAATGTCAATAT AGATTAGCATGGTATAATTATGTTCAGTCTCTGTGAACTTGAGCAAATTT TAAATTCAGTTTCATGTCAACTGTAAAGATGAGGAAGTCTTTTGCACAAT CATGAAGTGCAATGATTACTTTGTCAGGACTTTCGAATGGTGCTCTCCTC CACTAGAACTCACTAGAACTTGCAGAAGCTTTCTCATGACAGTGTTTCTC AACCACTAGCTGTACATTGGAATCACTGGGGAGCTTCAAAAATTCATGAT GCCTGGATCATCTCACAAATTCTAAACTAATTTGCCCAGAGTTGTGGCTT TAAAAGCTCTCCCATTGGTCCTCATGTGAAGCCAATGTTGGGAATCACTA ATTTAAGGCATTTCTGCCAGATAGAAAAGATACTTACAGTCCAAGGCCAT CCTGACCATTTGACCTTATCTTCCAGGAGCACTGCTTCGCTGCTTCATAC AAGCTGTGCATCTTTTCAACCCAATAATAGCTCTATGAATGTTCTTCTTT TCCTTCTCATTATGTTCCTATCCCACAAGTCCTACATCAATTCCCCAAGC CACTCTAAGAAACCTTCCCCATCGAGTACAGGGCCAGTTATTCTTCTGCT TTGTTACTGTTTATTGCAGGCTGTTATCATCACCTAATCTTATACTTTTC ATTAAACCACTCAGTTTTATTCTACAAGTCTTTTCTCTATTCTAAGAATT TCTCCTCTCTGCCCCATTTATGTTGTTTTGTTTTAATTCTTTCATAAAAG TCCAATAGTGTCTTGCAGAGGACATTATCCATTGCAGGCATTCCACACAT GTTTAAGGAGTGAGTTTCAGTTGATTTGGAGTTCTTGGATACAAGTTTTA AGCTGTTTAATTTTTAAATTTAATATGTGACATTTGTATATTTGAGTGTG TATGTCTGTCTGCAGGAAAAACATTCATGCCATTTGAAATTTTAAAATAA TGAGTCACATTAATAGAAAGATATGGAATCTTTCTCTGAAGAACTTAATG AACACTTGTCATTTATTTATATCAAGCAAGGCCCTATAAGCCTTATTTCT AGGACTTGTGCATTTACTATGCAACTCCTATTCTAAAGTAGGCTTTGTGC ATGGGAAGGAAGAATAGATAGGGTTTCAATCTTATTTGTGGCTTTAGGGA AGCTGTACATCCATCCTCTAAGTGTGTACAGACAGGGGCTCAACTCTGAA TAAAAGCAGGTCTCTGGCACACATGGGATGGGGTGATACTCCCTGGCAAT TTCCCAAGCATCTACTAGCTGGCACTTTTCAATTTCCATGACAATTTGCC TGCCCTTCACTTAACTGACATCAGAACATTTCTCTGCTGGCTGCTCCCCT GACACTGAAGTGACTTGGGAGAATGAGGGCTCAAAGTATTAGTCAAAACA CTATAGGCCTTGAGAAGCTTCCCATTTGCATTTCCTTTGGAAATCAAGAG AAGAAGTAAAAAACAAAAGCATAATGCTTCTTGAAGATCTCTTCCCATCA TTACACTGGATAGGTTCAGTTGGATGGAGTTAGTGAATGCTTAATAAGTT GAAGACTGTCCATATAATTGAAATATATAACACCTACTGAGGATTACCTT GCAAGTTTCATCATATACAAAATTAACTTTATATGGCTTTTCCAAAATAG TTTAACATAATGCCTAATAATCTGGATTTGATTTTTTAAAATATCTCTTT GCTTAAAATTTAAATAAAAAGGAACAGAAGCCAGCATGAACAATCTCAAG CCTGGCACAGAATAGATACTCAATAAATATTTTGTTAAATGATGAATGGT AAATGCTTTCACTATCCAATCTTCACAGAGCTAACTGAACAAGTACAAAT AAACCAACATGTATGGTGCTGAAAGTAGTTTTTTTTTAGTCATTGCAAAG CATTACCCTTGATGTCATCTTTTTTATTTTGCTTCTATCTTTTCTTCATT TGCTTCATTGTTTCTGAATATTCTTGTTTAACTTTTGCAGATCCCACTGA AATTAGACAATCTACCAATTCTTC	A A	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01109.hp2 HG01243.hp1 HG01884.hp2 others(25): Show HG01109.hp2 HG01243.hp1 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0010 a0002c0011 a0002c0014 others(3): Show a0002c0010 a0002c0011 a0002c0014 a0003c0004 a0003c0005 a0007c0017	a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 others(3): Show a0002c0010t0001 a0002c0011t0001 a0002c0014t0001 a0003c0004t0001 a0003c0005t0001 a0007c0017t0001	a0002c0010t0001g0035 a0002c0010t0001g0180 a0002c0011t0001g0036 others(13): Show a0002c0010t0001g0035 a0002c0010t0001g0180 a0002c0011t0001g0036 a0002c0011t0001g0181 a0002c0014t0001g0182 a0002c0014t0001g0192 a0003c0004t0001g0011 a0003c0004t0001g0012 a0003c0004t0001g0184 a0003c0004t0001g0207 a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0005t0001g0005 a0003c0005t0001g0226 a0007c0017t0001g0216	28	326	0.0859	-2173	c.141 others(12): Show c.1416+70_1452del	p.Ile others(13): Show p.Ile473_Pro485del	CYP3A43	ENSG00000021461.18	transcript	ENST00000354829.7	protein_coding	13/13		1417/1512	473/503	INFO_REALIGN_3_PRIME	chr7	TogoVar
CYP4V2_chr4_186186567_186218463	186201150	CATACAGG others(8): Show CATACAGGTCATCGCT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18949.hp1 NA18949.hp1	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0013 a0012c0021t0013	a0012c0021t0013g0184 a0012c0021t0013g0184	1	452	0.0022	-15	c.802 others(24): Show c.802-6_810delATACAGGTCATCGCT	p.Val others(13): Show p.Val268_Glu271del	CYP4V2	ENSG00000145476.16	transcript	ENST00000378802.5	protein_coding	7/11		802/1578	268/525		chr4	TogoVar
DACH1_chr13_71432966_71872204	71866526	TGCC TGCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02486.hp1 HG03130.hp2 HG03195.hp1 others(3): Show HG02486.hp1 HG03130.hp2 HG03195.hp1 HG03471.hp2 HG03486.hp2 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 others(1): Show a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0003c0003t0013	a0003c0003t0002g0002 a0003c0003t0002g0005 a0003c0003t0002g0007 others(3): Show a0003c0003t0002g0002 a0003c0003t0002g0005 a0003c0003t0002g0007 a0003c0003t0003g0003 a0003c0003t0005g0004 a0003c0003t0013g0006	6	102	0.0588	-3	c.241 others(10): Show c.241_243delGGC	p.Gly others(5): Show p.Gly81del	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/11	678/5245	241/2121	81/706		chr13	TogoVar
DCAF8_chr1_160210720_160267549	160240083	GCTCTTCT others(5): Show GCTCTTCTTCCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00741.hp1 NA20805.hp1 HG00741.hp1 NA20805.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0129 a0002c0003t0001g0142 a0002c0003t0001g0129 a0002c0003t0001g0142	2	336	0.0060	-12	c.325 others(19): Show c.325_336delGAGGAAGAAGAG	p.Glu others(13): Show p.Glu109_Glu112del	DCAF8	ENSG00000132716.19	transcript	ENST00000368074.6	protein_coding	4/14	537/3867	325/1794	109/597		chr1	TogoVar
DDR1_chr6_30879519_30905156	30892119	CAGCTTCT others(14): Show CAGCTTCTCCAGTGGCTATGTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19078.hp2 NA19078.hp2	a0005 a0005	a0005c0020 a0005c0020	a0005c0020t0001 a0005c0020t0001	a0005c0020t0001g0052 a0005c0020t0001g0052	1	431	0.0023	-21	c.784 others(28): Show c.784_804delAGCTTCTCCAGTGGCTATGTG	p.Ser others(13): Show p.Ser262_Val268del	DDR1	ENSG00000204580.14	transcript	ENST00000376568.8	protein_coding	7/18	1018/3836	784/2742	262/913		chr6	TogoVar
DENND4B_chr1_153924501_153951718	153934802	CCTGCTGC others(2): Show CCTGCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp2 HG00609.hp1 HG00621.hp1 others(118): Show HG00423.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG03098.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03942.hp2 HG04115.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0002c0006 a0002c0009 others(3): Show a0002c0002 a0002c0006 a0002c0009 a0002c0020 a0004c0011 a0007c0017	a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 others(5): Show a0002c0002t0001 a0002c0002t0005 a0002c0002t0006 a0002c0006t0001 a0002c0009t0001 a0002c0020t0001 a0004c0011t0001 a0007c0017t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 others(39): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0013 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0096 a0002c0002t0005g0044 a0002c0002t0006g0128 a0002c0006t0001g0028 a0002c0006t0001g0058 a0002c0006t0001g0067 a0002c0006t0001g0095 a0002c0009t0001g0025 a0002c0020t0001g0062 a0004c0011t0001g0050 a0007c0017t0001g0057	121	386	0.3135	-9	c.272 others(18): Show c.2722_2730delCAGCAGCAG	p.Gln others(13): Show p.Gln908_Gln910del	DENND4B	ENSG00000198837.10	transcript	ENST00000361217.9	protein_coding	18/28	3171/5728	2722/4491	908/1496		chr1	TogoVar
DMKN_chr19_35492220_35518649	35511491	CGCCACTG others(5): Show CGCCACTGCTGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02572.hp1 HG02809.hp1 HG03098.hp2 others(7): Show HG02572.hp1 HG02809.hp1 HG03098.hp2 NA18939.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18981.hp1 NA18986.hp2 NA19088.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0001 a0010c0009t0001	a0010c0009t0001g0021 a0010c0009t0001g0039 a0010c0009t0001g0040 others(3): Show a0010c0009t0001g0021 a0010c0009t0001g0039 a0010c0009t0001g0040 a0010c0009t0001g0093 a0010c0009t0001g0140 a0010c0009t0001g0141	10	442	0.0226	-12	c.826 others(19): Show c.826_837delAGCAGCAGTGGC	p.Ser others(13): Show p.Ser276_Gly279del	DMKN	ENSG00000161249.21	transcript	ENST00000339686.8	protein_coding	5/16	1011/1924	826/1431	276/476		chr19	TogoVar
DNAH17_chr17_78418697_78582396	78434017	ACAGCCCC others(121): Show ACAGCCCCTCACCTTGGGGTTGGCCTCCAGGTAGTTGTAGAGCACGTTGA TGGAGATGGTGAGGTCCCCGTTGTTGAAGGGGTACGACCGGTTCCAGCCC TGGGCGCCGAACTTGCGCCTCTCTGCCAC	A A	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG02976.hp2 HG02976.hp2	a0026 a0026	a0026c0019 a0026c0019	a0026c0019t0001 a0026c0019t0001	a0026c0019t0001g0127 a0026c0019t0001g0127	1	252	0.0040	-128	c.121 others(14): Show c.12109_12225+11del	p.Val others(15): Show p.Val4037_Lys4075del	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	75/81		12109/13389	4037/4462		chr17	TogoVar

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Search Results (Total: 883 hits)